PedAM
Pediatric Disease Annotations & Medicines
| hepatoblastoma | ||||
| Disease ID | 174 |
|---|---|
| Disease | hepatoblastoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0002664 | Neoplasia | 4 HP:0001518 | Small for gestational age | 3 HP:0011854 | Hemoperitoneum | 1 HP:0000113 | Polycystic kidney dysplasia | 1 HP:0008236 | Isosexual precocious puberty | 1 HP:0003072 | Hypercalcemia | 1 HP:0012120 | Methymalonicaciduria | 1 HP:0001520 | Birthweight > 90th percentile | 1 HP:0030731 | Carcinoma | 1 HP:0002896 | Liver cancer | 1 HP:0000826 | Precocious puberty | 1 HP:0001541 | Ascites | 1 HP:0001402 | Hepatocellular carcinoma | 1 HP:0001396 | Cholestasis | 1 HP:0003219 | Ethylmalonic aciduria | 1 |
| Disease ID | 174 |
|---|---|
| Disease | hepatoblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:19) C2697388 | cystathioninuria C2681938 | beckwith-wiedemann syndrome C2364133 | infection C2203646 | jaundice C2029884 | hearing loss C1412297 | aicardi syndrome C0836924 | thrombocytosis C0555278 | cerebral metastasis C0265479 | trisomy 20 C0265428 | partial trisomy 9p C0220650 | brain metastasis C0220650 | brain metastases C0153676 | pulmonary metastasis C0153676 | pulmonary metastases C0152096 | trisomy 18 C0041107 | trisomy C0034013 | precocious puberty C0019294 | inguinal hernia C0006118 | brain tumor |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0041107 | trisomy | 3 C0004903 | beckwith-wiedemann syndrome | 3 C0152096 | trisomy 18 | 2 C0153676 | pulmonary metastases | 1 C0009450 | infection | 1 C0034013 | precocious puberty | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913412 | NA | 1499 | CTNNB1 | umls:C0206624 | CLINVAR | NA | 0.247338862 | NA | CTNNB1 | 3 | 41224633 | A | C,G,T |
| rs137854578 | NA | 324 | APC | umls:C0206624 | CLINVAR | NA | 0.123528744 | NA | APC | 5 | 112839777 | A | T |
| rs28931588 | NA | 1499 | CTNNB1 | umls:C0206624 | CLINVAR | NA | 0.247338862 | NA | CTNNB1 | 3 | 41224606 | G | A,C,T |
| rs28931589 | NA | 1499 | CTNNB1 | umls:C0206624 | CLINVAR | NA | 0.247338862 | NA | CTNNB1 | 3 | 41224613 | G | A,T |
| rs28934571 | 16799619 | 324 | APC | umls:C0206624 | BeFree | It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas. | 0.123528744 | 2006 | TP53 | 17 | 7674216 | C | A |
| rs28934571 | 16799619 | 3845 | KRAS | umls:C0206624 | BeFree | It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas. | 0.000271442 | 2006 | TP53 | 17 | 7674216 | C | A |
| rs28934571 | 16799619 | 7157 | TP53 | umls:C0206624 | BeFree | It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas. | 0.129520329 | 2006 | TP53 | 17 | 7674216 | C | A |
| rs28934573 | NA | 7157 | TP53 | umls:C0206624 | CLINVAR | NA | 0.129520329 | NA | TP53 | 17 | 7674241 | G | C,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0206624 | cisplatin | D002945 | 15663-27-1 | hepatoblastoma | MESH:D018197 | therapeutic | 2206854 | ||
| C0206624 | fluorouracil | D005472 | 51-21-8 | hepatoblastoma | MESH:D018197 | therapeutic | 25178657 | ||
| C0206624 | methylphenidate | D008774 | 113-45-1 | hepatoblastoma | MESH:D018197 | marker/mechanism | 8545847 | ||
| C0206624 | phenytoin | D010672 | 57-41-0 | hepatoblastoma | MESH:D018197 | marker/mechanism | 8242847 | ||
FDA approved drug and dosage information(Total Drugs:3) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D018197 | daytrana | methylphenidate | 10MG/9HR (1.1MG/HR) | FILM, EXTENDED RELEASE;TRANSDERMAL | Prescription | None | Yes | No |
| MESH:D018197 | daytrana | methylphenidate | 10MG/9HR (1.1MG/HR) | FILM, EXTENDED RELEASE;TRANSDERMAL | Prescription | None | Yes | No |
| MESH:D018197 | daytrana | methylphenidate | 10MG/9HR (1.1MG/HR) | FILM, EXTENDED RELEASE;TRANSDERMAL | Prescription | None | Yes | No |
FDA labeling changes(Total Drugs:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D018197 | 6/4/2006 | daytrana | methylphenidate | ADHD | Summary is pending | Labeling | - | P | - | - | Shire | - | FALSE' |
| MESH:D018197 | 12/14/2009 | daytrana | methylphenidate | Postmarketing safety study | Information added to Warnings and Adverse Reactions on skin reactions observed in a postmarketing dermal study in pediatric patients | Labeling | - | P | - | - | Shire | - | FALSE' |
| MESH:D018197 | 06/29/2010 | daytrana | methylphenidate | ADHD | Expanded pediatric indication to include adolescent patients ages13-17 years The most commonly reported adverse reactions in a trial in patients 13-17 years included appetite decreased, nausea, insomnia, weight decreased, dizziness, abdominal pain, and anorexia. The majority of patients had erythema at the application site Information on PK parameters, Adverse Event profile and clinical studies | Labeling | - | P | - | - | Shire | - | FALSE' |